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Health Economics Review

, 3:29

First Online: 12 December 2013Received: 24 October 2013Accepted: 02 December 2013DOI: 10.1186-2191-1991-3-29

Cite this article as: Frank, M., Prenzler, A., Eils, R. et al. Health Econ Rev 2013 3: 29. doi:10.1186-2191-1991-3-29


Recently the sequencing of the human genome has become a major biological and clinical research field. However, the public health impact of this new technology with focus on the financial effect is not yet to be foreseen. To provide an overview of the current health economic evidence for genome sequencing, we conducted a thorough systematic review of the literature from 17 databases. In addition, we conducted a hand search. Starting with 5 520 records we ultimately included five full-text publications and one internet source, all focused on cost calculations. The results were very heterogeneous and, therefore, difficult to compare. Furthermore, because the methodology of the publications was quite poor, the reliability and validity of the results were questionable. The real costs for the whole sequencing workflow, including data management and analysis, remain unknown. Overall, our review indicates that the current health economic evidence for genome sequencing is quite poor. Therefore, we listed aspects that needed to be considered when conducting health economic analyses of genome sequencing. Thereby, specifics regarding the overall aim, technology, population, indication, comparator, alternatives after sequencing, outcomes, probabilities, and costs with respect to genome sequencing are discussed. For further research, at the outset, a comprehensive cost calculation of genome sequencing is needed, because all further health economic studies rely on valid cost data. The results will serve as an input parameter for budget-impact analyses or cost-effectiveness analyses.

KeywordsGenome Sequencing Health economics Cost analysis AbbreviationsDIMDIGerman institute for medical documentation and information

DNADeoxyribonucleic acid

HIVHuman immunodeficiency virus

HPCCHigh-performance computing cluster

ICERIncremental cost-effectiveness ratio

ITInformation technology


QALYQuality-adjusted life-year

WESWhole-exome sequencing

WGSWhole-genome sequencing.

Electronic supplementary materialThe online version of this article doi:10.1186-2191-1991-3-29 contains supplementary material, which is available to authorized users.

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Autor: Martin Frank - Anne Prenzler - Roland Eils - J-Matthias Graf von der Schulenburg


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